- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: IEA. (OMIM:601322)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: IEA. (OMIM:601322)
- Porencephalic cyst (HP:0002132): A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. Evidence: TAS. (OMIM:601322)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: IEA. (OMIM:601322)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:601322)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:601322)
- Agenesis of cerebellar vermis (HP:0002335): Congenital absence of the vermis of cerebellum. Evidence: TAS. (OMIM:601322)
These phenotypes are associated with the disease porencephaly-cerebellar hypoplasia-internal malformations syndrome (OMIM:601322).